title: L-2-Hydroxyglutaric aciduria: an inborn error of metabolism?
abstract: A 5-year-old boy, excreting large amounts of 2-hydroxyglutaric acid in the urine (3.3-7.6 mmol/l), is described. The patient presented with psychomotor retardation and dystrophy. His skeletal age was delayed. The EEG was not well differentiated; it resembled that observed in 2-year-old children. There was a severe anaemia, which reacted well to iron supplements. The 2-hydroxyglutaric acid was found to have the L-configuration, as analysed by capillary gas chromatography of the O-acetylated di-(-)-2-butyl ester derivative. The relation of L-2-hydroxyglutarate excretion to known metabolic pathways is discussed.
mesh_terms: D002675:Child, Preschool; D005977:Glutarates / Q000378:metabolism / Q000652:urine*; D006801:Humans; D006880:Hydroxy Acids / Q000378:metabolism / Q000652:urine; D007656:Ketoglutaric Acids / Q000378:metabolism / Q000652:urine; D008297:Male; D008661:Metabolism, Inborn Errors / Q000378:metabolism / Q000652:urine*
chemical_list: D005977:Glutarates; D006880:Hydroxy Acids; D007656:Ketoglutaric Acids; C019417:alpha-hydroxyglutarate